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Article

Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report.

BMC nephrology - 17 Jul 2019

Sandokji Ibrahim, Marquez Jonathan, Ji Weizhen, Zerillo Cynthia A, Konstantino Monica, Lakhani Saquib A, Khokha Mustafa K, Warejko Jillian K

Abstract excerpt

BACKGROUND: Monogenic mutations may be a significant cause of steroid-resistant nephrotic syndrome. NUP93 is a gene previously reported to cause isolated steroid-resistant nephrotic syndrome. CASE PRESENTATION: Here we describe a case of recessive, syndromic, steroid-resistant nephrotic syndrome caused by NUP93 mutation. CONCLUSIONS: NUP93 may convey a phenotype that has not only SRNS, but also other syndromic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 31315584
DOI: 10.1186/s12882-019-1458-z
PMCID: PMC6637548

Genes

NUP93

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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